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Clinical Genetics|November 13, 2014
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patientsS Spena, D Milani, D Rusconi, et al.Clinical Genetics|July 31, 2007
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutationA Selicorni, S Russo, C Gervasini, et al.Clinical Genetics|January 31, 2014
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 geneG Negri, D Milani, P Colapietro, et al.Clinical Genetics|February 5, 2005
Germline mosaicism in Rett syndrome identified by prenatal diagnosisF Mari, R Caselli, S Russo, et al.Human Reproduction (Oxford, England)|September 4, 2021
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiencyI Bestetti, C Barbieri, A Sironi, et al.Clinical Genetics|February 6, 2015
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotypeI Parenti, C Gervasini, J Pozojevic, et al.Clinical Genetics|February 10, 2016
Fetal growth patterns in Beckwith-Wiedemann syndromeA Mussa, S Russo, A de Crescenzo, et al.Clinical Genetics|December 17, 2015
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk predictionI Parenti, C Gervasini, J Pozojevic, et al.Pageof 11